Incidental Mutation 'R0006:Atad2b'
ID 43665
Institutional Source Beutler Lab
Gene Symbol Atad2b
Ensembl Gene ENSMUSG00000052812
Gene Name ATPase family, AAA domain containing 2B
Synonyms 1110014E10Rik, D530031C13Rik
MMRRC Submission 041980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0006 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4967353-5097394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4992030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 210 (S210T)
Ref Sequence ENSEMBL: ENSMUSP00000047445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664]
AlphaFold E9Q166
Predicted Effect possibly damaging
Transcript: ENSMUST00000045664
AA Change: S210T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: S210T

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 252 278 N/A INTRINSIC
AAA 432 573 4.56e-20 SMART
SCOP:d1e32a2 771 912 3e-4 SMART
BROMO 958 1070 4.24e-20 SMART
low complexity region 1135 1144 N/A INTRINSIC
low complexity region 1230 1253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219187
Meta Mutation Damage Score 0.0724 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Gabrd C A 4: 155,473,058 (GRCm39) V72L probably damaging Het
Ggh C A 4: 20,054,155 (GRCm39) T150K possibly damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or6z1 A G 7: 6,504,610 (GRCm39) I205T possibly damaging Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rbfox1 T A 16: 7,148,284 (GRCm39) S244R probably benign Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Skint5 T C 4: 113,751,059 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C probably damaging Het
Other mutations in Atad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Atad2b APN 12 5,074,593 (GRCm39) missense probably damaging 1.00
IGL00917:Atad2b APN 12 5,015,837 (GRCm39) unclassified probably benign
IGL01011:Atad2b APN 12 5,015,984 (GRCm39) missense probably benign 0.01
IGL01092:Atad2b APN 12 5,067,987 (GRCm39) missense probably damaging 0.98
IGL01604:Atad2b APN 12 5,015,837 (GRCm39) unclassified probably benign
IGL01924:Atad2b APN 12 5,084,093 (GRCm39) missense probably damaging 1.00
IGL02197:Atad2b APN 12 5,068,056 (GRCm39) missense possibly damaging 0.84
IGL02397:Atad2b APN 12 5,024,046 (GRCm39) missense probably damaging 1.00
IGL02404:Atad2b APN 12 4,991,972 (GRCm39) missense probably benign 0.08
IGL02517:Atad2b APN 12 5,068,037 (GRCm39) missense probably benign 0.07
IGL02726:Atad2b APN 12 5,024,003 (GRCm39) nonsense probably null
IGL02896:Atad2b APN 12 5,008,151 (GRCm39) missense probably damaging 1.00
IGL03227:Atad2b APN 12 5,056,715 (GRCm39) missense probably damaging 1.00
IGL03265:Atad2b APN 12 5,074,628 (GRCm39) missense probably benign 0.24
Plyers UTSW 12 5,023,970 (GRCm39) missense probably damaging 1.00
Smidge UTSW 12 5,040,949 (GRCm39) missense probably damaging 1.00
Tensor UTSW 12 5,007,558 (GRCm39) missense probably damaging 1.00
Traction UTSW 12 5,077,182 (GRCm39) critical splice donor site probably null
Vice UTSW 12 5,068,002 (GRCm39) missense probably damaging 1.00
K3955:Atad2b UTSW 12 5,004,536 (GRCm39) splice site probably benign
P0038:Atad2b UTSW 12 5,004,536 (GRCm39) splice site probably benign
PIT4418001:Atad2b UTSW 12 5,074,587 (GRCm39) missense probably benign 0.07
PIT4431001:Atad2b UTSW 12 5,081,795 (GRCm39) missense possibly damaging 0.77
R0006:Atad2b UTSW 12 4,992,030 (GRCm39) missense possibly damaging 0.81
R0124:Atad2b UTSW 12 5,002,676 (GRCm39) missense probably benign 0.23
R0462:Atad2b UTSW 12 4,991,973 (GRCm39) missense possibly damaging 0.79
R0483:Atad2b UTSW 12 4,995,035 (GRCm39) splice site probably benign
R0617:Atad2b UTSW 12 4,987,401 (GRCm39) missense probably benign 0.43
R0894:Atad2b UTSW 12 5,015,915 (GRCm39) missense probably damaging 1.00
R0942:Atad2b UTSW 12 5,074,591 (GRCm39) missense probably damaging 1.00
R0960:Atad2b UTSW 12 5,056,593 (GRCm39) splice site probably benign
R0973:Atad2b UTSW 12 5,081,784 (GRCm39) missense probably benign 0.00
R1306:Atad2b UTSW 12 5,024,239 (GRCm39) missense probably benign 0.08
R1530:Atad2b UTSW 12 4,992,018 (GRCm39) nonsense probably null
R1678:Atad2b UTSW 12 5,015,899 (GRCm39) missense possibly damaging 0.91
R1689:Atad2b UTSW 12 5,084,575 (GRCm39) nonsense probably null
R1826:Atad2b UTSW 12 5,024,094 (GRCm39) missense probably benign 0.00
R1996:Atad2b UTSW 12 5,040,883 (GRCm39) missense probably benign 0.01
R2233:Atad2b UTSW 12 5,056,745 (GRCm39) missense probably damaging 1.00
R2235:Atad2b UTSW 12 5,056,745 (GRCm39) missense probably damaging 1.00
R2943:Atad2b UTSW 12 4,992,067 (GRCm39) missense probably damaging 0.98
R3161:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4,989,689 (GRCm39) missense possibly damaging 0.87
R3508:Atad2b UTSW 12 5,000,595 (GRCm39) critical splice donor site probably null
R4239:Atad2b UTSW 12 5,035,710 (GRCm39) missense probably benign 0.05
R4401:Atad2b UTSW 12 4,990,145 (GRCm39) missense probably damaging 0.99
R4558:Atad2b UTSW 12 4,993,223 (GRCm39) missense probably benign 0.10
R4559:Atad2b UTSW 12 4,993,223 (GRCm39) missense probably benign 0.10
R4573:Atad2b UTSW 12 5,004,663 (GRCm39) splice site probably null
R4639:Atad2b UTSW 12 5,068,053 (GRCm39) missense probably damaging 1.00
R4847:Atad2b UTSW 12 4,994,901 (GRCm39) splice site probably null
R4850:Atad2b UTSW 12 4,993,251 (GRCm39) missense probably benign 0.15
R4851:Atad2b UTSW 12 4,993,251 (GRCm39) missense probably benign 0.15
R4979:Atad2b UTSW 12 5,084,513 (GRCm39) missense probably damaging 1.00
R5024:Atad2b UTSW 12 4,987,534 (GRCm39) missense probably benign 0.45
R5305:Atad2b UTSW 12 5,015,855 (GRCm39) missense probably damaging 1.00
R5405:Atad2b UTSW 12 4,990,098 (GRCm39) missense possibly damaging 0.87
R5627:Atad2b UTSW 12 4,967,911 (GRCm39) missense probably benign 0.01
R5754:Atad2b UTSW 12 5,060,351 (GRCm39) missense probably benign 0.01
R6163:Atad2b UTSW 12 5,004,593 (GRCm39) missense probably benign 0.00
R6371:Atad2b UTSW 12 5,023,970 (GRCm39) missense probably damaging 1.00
R6374:Atad2b UTSW 12 5,068,002 (GRCm39) missense probably damaging 1.00
R6399:Atad2b UTSW 12 5,007,558 (GRCm39) missense probably damaging 1.00
R6433:Atad2b UTSW 12 5,002,642 (GRCm39) missense possibly damaging 0.89
R6546:Atad2b UTSW 12 5,040,949 (GRCm39) missense probably damaging 1.00
R6617:Atad2b UTSW 12 5,074,668 (GRCm39) missense probably benign 0.00
R7199:Atad2b UTSW 12 5,067,992 (GRCm39) missense probably damaging 1.00
R7267:Atad2b UTSW 12 5,077,105 (GRCm39) nonsense probably null
R7405:Atad2b UTSW 12 4,993,232 (GRCm39) missense probably benign 0.08
R7460:Atad2b UTSW 12 5,002,660 (GRCm39) missense probably benign 0.28
R7568:Atad2b UTSW 12 5,060,390 (GRCm39) critical splice donor site probably null
R7593:Atad2b UTSW 12 5,081,726 (GRCm39) missense probably benign 0.16
R7648:Atad2b UTSW 12 5,077,182 (GRCm39) critical splice donor site probably null
R8253:Atad2b UTSW 12 5,024,160 (GRCm39) missense probably benign 0.02
R8253:Atad2b UTSW 12 5,024,159 (GRCm39) missense possibly damaging 0.54
R8708:Atad2b UTSW 12 5,011,253 (GRCm39) missense probably damaging 1.00
R8894:Atad2b UTSW 12 5,064,001 (GRCm39) critical splice donor site probably null
R8948:Atad2b UTSW 12 5,041,012 (GRCm39) missense possibly damaging 0.87
R8976:Atad2b UTSW 12 4,967,923 (GRCm39) critical splice donor site probably null
R9052:Atad2b UTSW 12 5,015,982 (GRCm39) missense probably damaging 1.00
R9057:Atad2b UTSW 12 5,068,102 (GRCm39) nonsense probably null
R9134:Atad2b UTSW 12 5,060,351 (GRCm39) missense probably benign 0.01
R9450:Atad2b UTSW 12 5,063,859 (GRCm39) missense probably benign 0.06
R9453:Atad2b UTSW 12 5,081,578 (GRCm39) missense probably benign 0.13
R9494:Atad2b UTSW 12 5,081,852 (GRCm39) missense probably benign 0.26
R9634:Atad2b UTSW 12 5,060,332 (GRCm39) missense probably damaging 1.00
R9764:Atad2b UTSW 12 5,082,064 (GRCm39) missense probably benign
Predicted Primers
Posted On 2013-05-29